Summary Literature (0)

DOID:0050755 - spinocerebellar ataxia with axonal neuropathy 2

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.

Synonyms: AOA2, ataxia with oculomotor apraxia type 2, autosomal recessive spinocerebellar ataxia 1, autosomal recessive spinocerebellar ataxia with axonal neuropathy 2, SCAN2, SCAR1, spinocerebellar ataxia with axonal neuropathy type 2

Xenbase Genes : setx, pik3r5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee